Incidental Mutation 'R5419:Eif2d'
ID 501043
Institutional Source Beutler Lab
Gene Symbol Eif2d
Ensembl Gene ENSMUSG00000026427
Gene Name eukaryotic translation initiation factor 2D
Synonyms D1Ertd5e, Lgtn
MMRRC Submission 042987-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R5419 (G1)
Quality Score 160
Status Not validated
Chromosome 1
Chromosomal Location 131080918-131115395 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 131086035 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Arginine at position 177 (*177R)
Ref Sequence ENSEMBL: ENSMUSP00000137887 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068791] [ENSMUST00000068805] [ENSMUST00000112446] [ENSMUST00000131855] [ENSMUST00000149119] [ENSMUST00000151874]
AlphaFold Q61211
Predicted Effect probably damaging
Transcript: ENSMUST00000068791
AA Change: W177R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000067461
Gene: ENSMUSG00000026427
AA Change: W177R

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
low complexity region 297 306 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000068805
AA Change: W177R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063894
Gene: ENSMUSG00000026427
AA Change: W177R

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
low complexity region 297 306 N/A INTRINSIC
Pfam:SUI1 474 554 1.1e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000112446
AA Change: W177R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000108065
Gene: ENSMUSG00000026427
AA Change: W177R

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
low complexity region 297 306 N/A INTRINSIC
Pfam:SUI1 472 551 3.5e-13 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000131855
AA Change: W177R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137678
Gene: ENSMUSG00000026427
AA Change: W177R

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
low complexity region 297 306 N/A INTRINSIC
Pfam:SUI1 472 554 8.7e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139468
Predicted Effect probably null
Transcript: ENSMUST00000149119
AA Change: *177R
SMART Domains Protein: ENSMUSP00000137887
Gene: ENSMUSG00000026427
AA Change: *177R

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000151874
AA Change: W177R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138061
Gene: ENSMUSG00000026427
AA Change: W177R

DomainStartEndE-ValueType
PUA 99 173 1.07e-5 SMART
low complexity region 297 306 N/A INTRINSIC
Pfam:SUI1 472 556 1e-13 PFAM
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.4%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a translation initiation factor involved in the recruitment and delivery of aminoacyl-tRNAs to the P-site of the eukaryotic ribosome in a GTP-independent manner. This gene was previously referred to as ligatin, but is now known to localize to the cytoplasm and localize and function with translation factors. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2011]
Allele List at MGI
Other mutations in this stock
Total: 61 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4931429L15Rik C T 9: 46,220,624 (GRCm39) probably null Het
Abca13 T A 11: 9,143,533 (GRCm39) probably null Het
Akap13 A T 7: 75,259,991 (GRCm39) T69S probably benign Het
Arl1 T A 10: 88,572,966 (GRCm39) C80S probably damaging Het
Bltp2 T A 11: 78,162,916 (GRCm39) L926* probably null Het
Brsk1 A G 7: 4,712,003 (GRCm39) T618A possibly damaging Het
Cep295 T C 9: 15,235,533 (GRCm39) H1982R probably damaging Het
Ces5a A T 8: 94,226,059 (GRCm39) S559T unknown Het
Clcf1 A G 19: 4,272,213 (GRCm39) N90S possibly damaging Het
Clec16a G A 16: 10,549,543 (GRCm39) C872Y probably damaging Het
Cobll1 A T 2: 64,933,701 (GRCm39) D430E possibly damaging Het
Cyp1a2 T A 9: 57,589,794 (GRCm39) I7F probably benign Het
Cyp2b23 G A 7: 26,380,848 (GRCm39) R126* probably null Het
Daam2 A G 17: 49,787,782 (GRCm39) W444R possibly damaging Het
Dcbld2 T A 16: 58,275,621 (GRCm39) C446S probably damaging Het
Dnase1l1 C T X: 73,320,644 (GRCm39) probably null Het
Fkbp15 G A 4: 62,246,114 (GRCm39) A438V probably damaging Het
Gjb5 G A 4: 127,249,652 (GRCm39) A164V probably benign Het
Grin1 A T 2: 25,188,285 (GRCm39) probably null Het
Grm3 A G 5: 9,620,233 (GRCm39) F337S probably damaging Het
Hey2 T A 10: 30,710,019 (GRCm39) T245S probably benign Het
Ifi206 T C 1: 173,308,797 (GRCm39) T400A probably benign Het
Itga7 G A 10: 128,779,902 (GRCm39) E480K probably null Het
Itpr1 T C 6: 108,470,755 (GRCm39) Y2227H possibly damaging Het
Krt8 T C 15: 101,912,337 (GRCm39) D113G probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lins1 A G 7: 66,357,843 (GRCm39) probably benign Het
Lmf1 A T 17: 25,881,610 (GRCm39) D553V possibly damaging Het
Lnpep A G 17: 17,786,992 (GRCm39) S536P probably damaging Het
Lrp1b A T 2: 40,620,716 (GRCm39) C3587* probably null Het
Macf1 A T 4: 123,290,917 (GRCm39) D3435E possibly damaging Het
Mmp1b T C 9: 7,384,897 (GRCm39) I251V possibly damaging Het
Myg1 A T 15: 102,245,397 (GRCm39) N206I probably damaging Het
Myl12a T G 17: 71,301,694 (GRCm39) R144S probably benign Het
Myo5a T A 9: 75,055,179 (GRCm39) I454K probably damaging Het
Nwd2 A G 5: 63,965,051 (GRCm39) D1545G probably benign Het
Ogdhl T G 14: 32,061,181 (GRCm39) D457E probably damaging Het
Or5ac20 T A 16: 59,104,704 (GRCm39) D52V probably damaging Het
Or9s18 A C 13: 65,300,588 (GRCm39) L183F probably damaging Het
Paf1 A G 7: 28,095,095 (GRCm39) I112V possibly damaging Het
Pate7 T A 9: 35,689,407 (GRCm39) probably null Het
Pcdhga4 C T 18: 37,819,798 (GRCm39) P449L probably damaging Het
Pla2g6 A T 15: 79,183,342 (GRCm39) I495N possibly damaging Het
Ptgs1 A G 2: 36,127,234 (GRCm39) Y40C probably damaging Het
Ptprn2 A T 12: 117,148,267 (GRCm39) I676F probably damaging Het
Rev3l T C 10: 39,700,927 (GRCm39) L1808P possibly damaging Het
Sall2 A G 14: 52,550,586 (GRCm39) S868P probably damaging Het
Shoc1 A T 4: 59,049,017 (GRCm39) M1116K probably benign Het
Slc47a2 A G 11: 61,198,412 (GRCm39) F428L probably benign Het
Slco1a7 C T 6: 141,681,826 (GRCm39) probably null Het
Slco3a1 A T 7: 73,934,363 (GRCm39) F603Y possibly damaging Het
Smyd2 A T 1: 189,642,090 (GRCm39) C65* probably null Het
Ssu72 T C 4: 155,800,007 (GRCm39) F57L probably damaging Het
Tanc2 A G 11: 105,813,709 (GRCm39) T1718A probably benign Het
Tnks G C 8: 35,432,720 (GRCm39) P34A unknown Het
Top3a G A 11: 60,653,348 (GRCm39) T42I probably damaging Het
Trank1 T C 9: 111,220,369 (GRCm39) S2369P probably damaging Het
Ttn A T 2: 76,641,587 (GRCm39) L5176Q possibly damaging Het
Ubqln1 T C 13: 58,330,997 (GRCm39) Q410R probably damaging Het
Vmn2r11 A G 5: 109,207,224 (GRCm39) I32T possibly damaging Het
Xcr1 A G 9: 123,685,375 (GRCm39) F129S probably benign Het
Other mutations in Eif2d
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00509:Eif2d APN 1 131,094,089 (GRCm39) missense probably benign 0.06
IGL00848:Eif2d APN 1 131,092,173 (GRCm39) nonsense probably null
IGL02250:Eif2d APN 1 131,088,166 (GRCm39) missense probably benign 0.34
IGL02423:Eif2d APN 1 131,081,097 (GRCm39) utr 5 prime probably benign
IGL02877:Eif2d APN 1 131,092,854 (GRCm39) splice site probably benign
R0001:Eif2d UTSW 1 131,095,864 (GRCm39) nonsense probably null
R0593:Eif2d UTSW 1 131,083,465 (GRCm39) splice site probably benign
R0739:Eif2d UTSW 1 131,082,100 (GRCm39) missense probably damaging 1.00
R1842:Eif2d UTSW 1 131,098,797 (GRCm39) missense probably damaging 1.00
R2088:Eif2d UTSW 1 131,092,464 (GRCm39) missense probably damaging 0.98
R4206:Eif2d UTSW 1 131,082,100 (GRCm39) missense probably damaging 1.00
R4732:Eif2d UTSW 1 131,092,464 (GRCm39) missense probably damaging 0.98
R4733:Eif2d UTSW 1 131,092,464 (GRCm39) missense probably damaging 0.98
R4734:Eif2d UTSW 1 131,092,889 (GRCm39) missense probably damaging 1.00
R4931:Eif2d UTSW 1 131,082,128 (GRCm39) missense probably damaging 1.00
R5281:Eif2d UTSW 1 131,101,080 (GRCm39) missense probably damaging 1.00
R5773:Eif2d UTSW 1 131,086,040 (GRCm39) splice site probably null
R6074:Eif2d UTSW 1 131,094,079 (GRCm39) missense probably damaging 1.00
R6947:Eif2d UTSW 1 131,092,404 (GRCm39) missense probably benign 0.00
R7396:Eif2d UTSW 1 131,094,111 (GRCm39) missense probably benign 0.13
R7419:Eif2d UTSW 1 131,098,793 (GRCm39) missense probably benign 0.00
R7630:Eif2d UTSW 1 131,082,103 (GRCm39) missense probably benign 0.01
R7910:Eif2d UTSW 1 131,082,950 (GRCm39) missense probably damaging 1.00
R8295:Eif2d UTSW 1 131,085,988 (GRCm39) missense probably benign 0.37
R8471:Eif2d UTSW 1 131,092,155 (GRCm39) missense probably benign 0.25
R9217:Eif2d UTSW 1 131,085,972 (GRCm39) missense possibly damaging 0.52
R9488:Eif2d UTSW 1 131,082,962 (GRCm39) missense probably damaging 1.00
R9722:Eif2d UTSW 1 131,092,948 (GRCm39) critical splice donor site probably null
Z1176:Eif2d UTSW 1 131,092,239 (GRCm39) missense probably damaging 0.98
Z1176:Eif2d UTSW 1 131,092,202 (GRCm39) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- ATGCTTGCTATGAGGGAAACTG -3'
(R):5'- GCCTCTAGATTCTTGTCTGGAC -3'

Sequencing Primer
(F):5'- TCTGAACTGAACGGGTCCC -3'
(R):5'- TGGACAAATAAAACTGTATTTCCCCC -3'
Posted On 2017-12-01